Maintaining Intestinal Health: The Genetics and Immunology of Very Early Onset Inflammatory Bowel Disease

[1]  Ta-Chiang Liu,et al.  Genetics and Pathogenesis of Inflammatory Bowel Disease. , 2016, Annual review of pathology.

[2]  M. Farrar,et al.  Group 3 innate lymphoid cells mediate intestinal selection of commensal bacteria–specific CD4+ T cells , 2015, Science.

[3]  S. Latour,et al.  X-linked Inhibitor of Apoptosis Protein Deficiency: More than an X-linked Lymphoproliferative Syndrome , 2015, Journal of Clinical Immunology.

[4]  S. Latour,et al.  XIAP deficiency syndrome in humans. , 2015, Seminars in cell & developmental biology.

[5]  S. Pai,et al.  Stem cell transplantation for primary immunodeficiency diseases: the North American experience , 2014, Current opinion in allergy and clinical immunology.

[6]  Ç. Karaca,et al.  Small bowel mucosal damage in familial Mediterranean fever: results of capsule endoscopy screening , 2014, Scandinavian journal of gastroenterology.

[7]  A. Franke,et al.  Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4 , 2014, Gut.

[8]  O. Nielsen,et al.  Inhibitors of apoptosis (IAPs) regulate intestinal immunity and inflammatory bowel disease (IBD) inflammation. , 2014, Trends in molecular medicine.

[9]  C. Klein,et al.  The diagnostic approach to monogenic very early onset inflammatory bowel disease. , 2014, Gastroenterology.

[10]  M. Seidel Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. , 2014, Blood.

[11]  S. Snapper,et al.  Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease. , 2014, Gastroenterology.

[12]  C. Nielsen,et al.  Immunodeficiency Associated with a Nonsense Mutation of IKBKB , 2014, Journal of Clinical Immunology.

[13]  P. Beales,et al.  Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis , 2014, Journal of Medical Genetics.

[14]  M. Silverberg,et al.  Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. , 2014, Gastroenterology.

[15]  Yasmine Belkaid,et al.  The Alarmin IL-33 Promotes Regulatory T Cell Function in the Intestine , 2014, Nature.

[16]  G. Friedlander,et al.  Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis. , 2014, Immunity.

[17]  C. Klein,et al.  Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. , 2014, Immunity.

[18]  L. Notarangelo,et al.  Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. , 2014, The Journal of allergy and clinical immunology.

[19]  E. Miele,et al.  Phenotype and Disease Course of Early-onset Pediatric Inflammatory Bowel Disease , 2014, Inflammatory bowel diseases.

[20]  E. Schadt,et al.  Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. , 2014, Gastroenterology.

[21]  Y. Belkaid,et al.  Role of the Microbiota in Immunity and Inflammation , 2014, Cell.

[22]  R. Xavier,et al.  IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans , 2014, Proceedings of the National Academy of Sciences.

[23]  D. Vozzi,et al.  Mevalonate kinase deficiency and IBD: shared genetic background , 2014, Gut.

[24]  J. Puchalka,et al.  Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation , 2014, Journal of Clinical Immunology.

[25]  G. Yılmaz,et al.  Colonic Lymphoid Nodular Hyperplasia in Childhood: Causes of Familial Mediterranean Fever Need Extra Attention , 2013, Journal of pediatric gastroenterology and nutrition.

[26]  H. Uhlig Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease , 2013, Gut.

[27]  K. Schwarz,et al.  X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. , 2013, Clinical immunology.

[28]  S. Park,et al.  Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis. , 2013, European journal of gastroenterology & hepatology.

[29]  L. Cuisset,et al.  Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency , 2013, Pediatrics.

[30]  L. Mayer,et al.  Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. , 2013, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[31]  D. Miranda-Saavedra,et al.  The IL-10/STAT3-mediated anti-inflammatory response: recent developments and future challenges , 2013, Briefings in functional genomics.

[32]  M. Sperandio,et al.  The molecular basis of leukocyte recruitment and its deficiencies. , 2013, Molecular immunology.

[33]  P. Saas,et al.  Faculty Opinions recommendation of Thymus-derived regulatory T cells contribute to tolerance to commensal microbiota. , 2013 .

[34]  R. Goldbach-Mansky,et al.  Monogenic autoinflammatory diseases: concept and clinical manifestations. , 2013, Clinical immunology.

[35]  F. Bushman,et al.  Innate lymphoid cells regulate CD4+ T cell responses to intestinal commensal bacteria , 2013, Nature.

[36]  T. Kutlu,et al.  Association of Inflammatory Bowel Disease With Familial Mediterranean Fever in Turkish Children , 2013, Journal of pediatric gastroenterology and nutrition.

[37]  M. Colonna,et al.  Intraepithelial type 1 innate lymphoid cells are a unique subset of IL-12- and IL-15-responsive IFN-γ-producing cells. , 2013, Immunity.

[38]  Bodo Grimbacher,et al.  B-cell biology and development. , 2013, The Journal of allergy and clinical immunology.

[39]  B. Hartmann,et al.  Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. , 2013, The Journal of allergy and clinical immunology.

[40]  H. Kanegane,et al.  Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. , 2013, The Journal of allergy and clinical immunology.

[41]  C. Buskens,et al.  Human type 1 innate lymphoid cells accumulate in inflamed mucosal tissues , 2013, Nature Immunology.

[42]  R. Locksley,et al.  Innate lymphoid cells — a proposal for uniform nomenclature , 2013, Nature Reviews Immunology.

[43]  B. Nadel,et al.  A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. , 2012, Blood.

[44]  D. Artis,et al.  Innate lymphoid cell interactions with microbiota: implications for intestinal health and disease. , 2012, Immunity.

[45]  Y. Belkaid,et al.  Acute Gastrointestinal Infection Induces Long-Lived Microbiota-Specific T Cell Responses , 2012, Science.

[46]  Casey T. Weaver,et al.  Reciprocal interactions of the intestinal microbiota and immune system , 2012, Nature.

[47]  S. Snapper,et al.  Wiskott-Aldrich syndrome protein deficiency in innate immune cells leads to mucosal immune dysregulation and colitis in mice. , 2012, Gastroenterology.

[48]  R. Geha,et al.  LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. , 2012, The Journal of allergy and clinical immunology.

[49]  S. Snapper,et al.  The age of gene discovery in very early onset inflammatory bowel disease. , 2012, Gastroenterology.

[50]  R. Bacchetta,et al.  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity , 2012, Front. Immun..

[51]  A. Macpherson,et al.  Interactions Between the Microbiota and the Immune System , 2012, Science.

[52]  F. Bushman,et al.  Innate Lymphoid Cells Promote Anatomical Containment of Lymphoid-Resident Commensal Bacteria , 2012, Science.

[53]  A. Rizzo,et al.  Interleukin-22 and interleukin-22-producing NKp44+ natural killer cells in subclinical gut inflammation in ankylosing spondylitis. , 2012, Arthritis and rheumatism.

[54]  F. Alt,et al.  Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. , 2012, Blood.

[55]  S. Levy,et al.  Familial diarrhea syndrome caused by an activating GUCY2C mutation. , 2012, The New England journal of medicine.

[56]  Jing Yang,et al.  Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease , 2012, Genes and Immunity.

[57]  A. Rudensky,et al.  Regulatory T cells: mechanisms of differentiation and function. , 2012, Annual review of immunology.

[58]  M. Eki̇m,et al.  An infant with severe refractory Crohn’s disease and homozygous MEFV mutation who dramatically responded to colchicine , 2012, Rheumatology International.

[59]  A. Plebani,et al.  A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP , 2012, The Journal of experimental medicine.

[60]  A. Fischer,et al.  Hematologically important mutations: leukocyte adhesion deficiency (first update). , 2012, Blood cells, molecules & diseases.

[61]  A. Filipovich The expanding spectrum of hemophagocytic lymphohistiocytosis , 2011, Current opinion in allergy and clinical immunology.

[62]  T. Morio,et al.  Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection , 2011, International journal of hematology.

[63]  Wei-Li Di,et al.  Inflammatory skin and bowel disease linked to ADAM17 deletion. , 2011, The New England journal of medicine.

[64]  Judy H. Cho,et al.  NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2 , 2011, Gut.

[65]  C. Alpers,et al.  WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity , 2011, The Journal of experimental medicine.

[66]  D. Wolfsohn,et al.  The management of gastrointestinal disease in Hermansky-Pudlak syndrome. , 2011, Journal of clinical gastroenterology.

[67]  J. Orange,et al.  Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels. , 2011, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

[68]  Fiona Powrie,et al.  Intestinal homeostasis and its breakdown in inflammatory bowel disease , 2011, Nature.

[69]  S. Travis,et al.  IL-23–responsive innate lymphoid cells are increased in inflammatory bowel disease , 2011, The Journal of experimental medicine.

[70]  S. Holland,et al.  Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. , 2011, The Journal of allergy and clinical immunology.

[71]  D. Artis,et al.  Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22 , 2011, Nature Immunology.

[72]  David P Bick,et al.  Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease , 2011, Genetics in Medicine.

[73]  Julian Parkhill,et al.  High-throughput clone library analysis of the mucosa-associated microbiota reveals dysbiosis and differences between inflamed and non-inflamed regions of the intestine in inflammatory bowel disease , 2011, BMC Microbiology.

[74]  J. Orange,et al.  Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis. , 2010, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[75]  Anders F. Andersson,et al.  A pyrosequencing study in twins shows that gastrointestinal microbial profiles vary with inflammatory bowel disease phenotypes. , 2010, Gastroenterology.

[76]  S. McCartney,et al.  Inflammatory bowel diseases in patients with adaptive and complement immunodeficiency disorders. , 2010, Inflammatory bowel diseases.

[77]  A. Rudensky,et al.  A critical role for regulatory T cell–mediated control of inflammation in the absence of commensal microbiota , 2010, The Journal of experimental medicine.

[78]  N. Sebire,et al.  Infant colitis—it's in the genes , 2010, The Lancet.

[79]  T. Hibi,et al.  Imbalance of NKp44(+)NKp46(-) and NKp44(-)NKp46(+) natural killer cells in the intestinal mucosa of patients with Crohn's disease. , 2010, Gastroenterology.

[80]  P. Schirmacher,et al.  Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice , 2010, The Journal of experimental medicine.

[81]  M. Ziol,et al.  The Enteropathy Associated With Common Variable Immunodeficiency: The Delineated Frontiers With Celiac Disease , 2010, The American Journal of Gastroenterology.

[82]  A. Macpherson,et al.  Immune adaptations that maintain homeostasis with the intestinal microbiota , 2010, Nature Reviews Immunology.

[83]  J. Scheller,et al.  ADAM17-mediated shedding of the IL6R induces cleavage of the membrane stub by gamma-secretase. , 2010, Biochimica et biophysica acta.

[84]  S. Holland,et al.  Combined immunodeficiency associated with DOCK8 mutations. , 2009, The New England journal of medicine.

[85]  A. Schäffer,et al.  Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. , 2009, The New England journal of medicine.

[86]  C. Elson,et al.  A dominant, coordinated T regulatory cell-IgA response to the intestinal microbiota , 2009, Proceedings of the National Academy of Sciences.

[87]  S. Tangye,et al.  Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production , 2009, Nature Immunology.

[88]  Xing Jun Li,et al.  A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. , 2009, Blood.

[89]  T. To,et al.  Increasing incidence of paediatric inflammatory bowel disease in Ontario, Canada: evidence from health administrative data , 2009, Gut.

[90]  J. McCune,et al.  Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. , 2009, Clinical immunology.

[91]  Janet K. Jansson,et al.  Twin studies reveal specific imbalances in the mucosa‐associated microbiota of patients with ileal Crohn's disease , 2009, Inflammatory bowel diseases.

[92]  A. Ventura,et al.  IBD and IBD mimicking enterocolitis in children younger than 2 years of age , 2009, European Journal of Pediatrics.

[93]  M. Novelli,et al.  Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease , 2009, The American Journal of Gastroenterology.

[94]  R. Fässler,et al.  Loss of Kindlin-1 Causes Skin Atrophy and Lethal Neonatal Intestinal Epithelial Dysfunction , 2008, PLoS genetics.

[95]  U. Pannicke,et al.  An immunodeficiency disease with RAG mutations and granulomas. , 2008, The New England journal of medicine.

[96]  P. Mcgrogan,et al.  Special Article: Chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient‐based registry , 2008, Clinical and experimental immunology.

[97]  E. Chi,et al.  Regulatory T cell-derived interleukin-10 limits inflammation at environmental interfaces. , 2008, Immunity.

[98]  S. Rosenzweig Inflammatory Manifestations in Chronic Granulomatous Disease (CGD) , 2008, Journal of Clinical Immunology.

[99]  P. Rufo,et al.  Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib , 2008, Journal of Inherited Metabolic Disease.

[100]  E. Haan,et al.  Chronic colitis due to an epithelial barrier defect: the role of kindlin‐1 isoforms , 2007, The Journal of pathology.

[101]  U. Broeckel,et al.  Pediatric inflammatory bowel disease: clinical and molecular genetics. , 2007, Inflammatory bowel diseases.

[102]  E. Nieuwenhuis,et al.  IPEX as a Result of Mutations in FOXP3 , 2007, Clinical & developmental immunology.

[103]  H. Ochs,et al.  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. , 2007, The Journal of allergy and clinical immunology.

[104]  C. Klein,et al.  Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein. , 2007, Gastroenterology.

[105]  D. Hommes,et al.  Genetic susceptibility has a more important role in pediatric‐onset Crohn's disease than in adult‐onset Crohn's disease , 2007, Inflammatory bowel diseases.

[106]  Martin Wiedmann,et al.  Culture independent analysis of ileal mucosa reveals a selective increase in invasive Escherichia coli of novel phylogeny relative to depletion of Clostridiales in Crohn's disease involving the ileum , 2007, The ISME Journal.

[107]  A. Gruber,et al.  Epithelial-cell-intrinsic IKK-β expression regulates intestinal immune homeostasis , 2007, Nature.

[108]  M. Neurath,et al.  Epithelial NEMO links innate immunity to chronic intestinal inflammation , 2007, Nature.

[109]  S. Snapper,et al.  The Wiskott-Aldrich syndrome protein is required for the function of CD4+CD25+Foxp3+ regulatory T cells , 2007, The Journal of experimental medicine.

[110]  A. Klausegger,et al.  Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. , 2006, Archives of dermatology.

[111]  O. Goulet,et al.  Characteristics of Inflammatory Bowel Disease With Onset During the First Year of Life , 2006, Journal of pediatric gastroenterology and nutrition.

[112]  M. van der Burg,et al.  An antibody-deficiency syndrome due to mutations in the CD19 gene. , 2006, The New England journal of medicine.

[113]  P. Murray The primary mechanism of the IL-10-regulated antiinflammatory response is to selectively inhibit transcription. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[114]  K. Rajewsky,et al.  T Cell–specific Inactivation of the Interleukin 10 Gene in Mice Results in Enhanced T Cell Responses but Normal Innate Responses to Lipopolysaccharide or Skin Irritation , 2004, The Journal of experimental medicine.

[115]  Laurent Beaugerie,et al.  High prevalence of adherent-invasive Escherichia coli associated with ileal mucosa in Crohn's disease. , 2004, Gastroenterology.

[116]  C. Hart,et al.  Enhanced Escherichia coli adherence and invasion in Crohn's disease and colon cancer. , 2004, Gastroenterology.

[117]  A. Simon,et al.  Effect of CD3δ Deficiency on Maturation of α/β and γ/δ T-Cell Lineages in Severe Combined Immunodeficiency , 2003 .

[118]  R. Baldassano,et al.  Inflammatory bowel disease in children 5 years of age and younger , 2002, American Journal of Gastroenterology.

[119]  D. Roos,et al.  Hematologically important mutations: leukocyte adhesion deficiency. , 2001, Blood cells, molecules & diseases.

[120]  M. Kronenberg,et al.  The Crohn's disease-associated bacterial protein I2 is a novel enteric t cell superantigen. , 2001, Immunity.

[121]  S. Orlow,et al.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). , 2000, American journal of human genetics.

[122]  L. Notarangelo,et al.  Diagnostic Criteria for Primary Immunodeficiencies , 1999 .

[123]  C. Cunningham-Rundles,et al.  Common variable immunodeficiency: clinical and immunological features of 248 patients. , 1999, Clinical immunology.

[124]  V. Godfrey,et al.  IL-2-deficient mice raised under germfree conditions develop delayed mild focal intestinal inflammation. , 1999, American journal of physiology. Gastrointestinal and liver physiology.

[125]  S. Chanock,et al.  Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. , 1998, The Journal of clinical investigation.

[126]  Steven F. Ziegler,et al.  Defective IL7R expression in T-B+NK + severe combined immunodeficiency , 1998, Nature Genetics.

[127]  R. Sartor,et al.  Resident Enteric Bacteria Are Necessary for Development of Spontaneous Colitis and Immune System Activation in Interleukin-10-Deficient Mice , 1998, Infection and Immunity.

[128]  K. Washington,et al.  Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. , 1996, The American journal of surgical pathology.

[129]  A. Liu,et al.  ISOLATION OF A NOVEL GENE MUTATED IN WISKOTT-ALDRICH SYNDROME , 1995, Pediatrics.

[130]  C. Ware,et al.  Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice , 1994, The Journal of experimental medicine.

[131]  K. Rajewsky,et al.  Interleukin-10-deficient mice develop chronic enterocolitis , 1993, Cell.

[132]  E. Nice,et al.  Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation , 1993, Cell.

[133]  David C. Lee,et al.  TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice , 1993, Cell.

[134]  D. Bentley,et al.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases , 1993, Nature.

[135]  V. Stewart,et al.  RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement , 1992, Cell.

[136]  Susumu Tonegawa,et al.  RAG-1-deficient mice have no mature B and T lymphocytes , 1992, Cell.

[137]  A. Abo,et al.  Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1 , 1991, Nature.

[138]  M. Chang,et al.  Wiskott-Aldrich syndrome and inflammatory bowel disease. , 1988, Annals of allergy.

[139]  M. Cooper,et al.  Primary antibody deficiencies , 1978, Springer Seminars in Immunopathology.

[140]  B. Grimbacher,et al.  IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms. , 2014, Current topics in microbiology and immunology.

[141]  D. Miranda-Saavedra,et al.  The IL-10 / STAT 3-mediated anti-inflammatory response : recent developments and future challenges , 2013 .

[142]  Sharon K. Ahluwalia,et al.  Peripheral Education of the Immune System by Colonic Commensal Microbiota , 2012 .

[143]  Judy H. Cho,et al.  Materials for : Host-microbe interactions shape genetic risk for inflammatory bowel disease , 2012 .

[144]  高山 哲朗 Imbalance of NKp44[+]NKp46[-] and NKp44[-]NKp46[+] natural killer cells in the intestinal mucosa of patients with Crohn's disease , 2011 .

[145]  B. Grimbacher,et al.  Inflammatory bowel disease: is it a primary immunodeficiency? , 2011, Cellular and Molecular Life Sciences.

[146]  E. Szigethy,et al.  Inflammatory bowel disease. , 2011, Pediatric clinics of North America.

[147]  F. Rieux-Laucat,et al.  Digestive histopathological presentation of IPEX syndrome , 2009, Modern Pathology.

[148]  Y. Hayashi,et al.  Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. , 2006, Allergology international : official journal of the Japanese Society of Allergology.

[149]  R. Baldassano,et al.  Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. , 2005, The Journal of pediatrics.

[150]  S. Targan,et al.  Bacterial flagellin is a dominant antigen in Crohn disease. , 2004, The Journal of clinical investigation.

[151]  R. Blumberg,et al.  The immunology of mucosal models of inflammation. , 2002, Annual review of immunology.

[152]  K. Zimmer,et al.  Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. , 2002, Gastroenterology.

[153]  R. Coffman,et al.  Interleukin-10 and the interleukin-10 receptor. , 2001, Annual review of immunology.

[154]  L. Notarangelo,et al.  Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). , 1999, Clinical immunology.

[155]  E. Brooks,et al.  T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. , 1999, Blood.

[156]  D. Vetrie,et al.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases , 1993, Nature.

[157]  R. Geha,et al.  Immune deficiencies , infection , and systemic immune disorders T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation , 2022 .